Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey

BACKGROUND: Early diagnosis is of substantial benefit for patients with Pompe disease. Yet underdiagnosing and substantial diagnostic delay are still frequent and the determinants of this are unknown. This study is the first to systematically investigate the diagnostic odyssey in Pompe disease from...

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Detalles Bibliográficos
Publicado en:JIMD Rep
Main Authors: Lagler, Florian B., Moder, Angelika, Rohrbach, Marianne, Hennermann, Julia, Mengel, Eugen, Gökce, Seyfullah, Hundsberger, Thomas, Rösler, Kai M., Karabul, Nesrin, Huemer, Martina
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley & Sons, Inc. 2019
Assuntos:
Research Reports
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6718115/
https://ncbi.nlm.nih.gov/pubmed/31497486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12062
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